363212003: Hereditary disorder of musculoskeletal system (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1884651000052117 ärftlig sjukdom i muskuloskeletala systemet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of musculoskeletal system	Is a	Disorder of musculoskeletal system	true	Inferred relationship	Some
Hereditary disorder of musculoskeletal system	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of musculoskeletal system	Finding site	Structure of musculoskeletal system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short stature, brachydactyly, obesity, global developmental delay syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Maternally inherited mitochondrial myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some

Start Previous Page 8 of 8

Reference Sets

Description inactivation indicator reference set